IEMbase 0657: ALDH3A2-related fatty aldehyde dehydrogenase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 657 |
| Nosology | 14.1.01.01 |
| Nosology code | IEM0651 |
| Gene | ALDH3A2 |
| External IDs | OMIM:270200; ORPHA:816 |
| Generated mapping | UNMAPPED; weak candidate Sjogrens_Syndrome.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive ALDH3A2-related fatty aldehyde dehydrogenase deficiency, also labeled Sjogren-Larsson syndrome, ichthyosis, spastic neurologic disorder and oligophrenia.
Biochemical rows include decreased fibroblast aldehyde dehydrogenase activity. Clinical rows include childhood spastic paraparesis/paraplegia/tetraplegia, infantile-to-childhood ichthyosis, childhood intellectual disability, infantile-to-childhood leukoencephalopathy, and infantile-to-childhood macular degeneration.
DisMech phenotype coverage
Sjogrens_Syndrome.yaml is a name-collision false candidate. It models primary
Sjogren disease, a systemic autoimmune exocrinopathy with lymphocytic gland
infiltration, sicca symptoms, interferon/JAK-STAT immune biology, and lymphoma
risk. It does not model ALDH3A2, fatty aldehyde dehydrogenase deficiency,
ichthyosis, spastic diplegia/tetraplegia, leukoencephalopathy, or retinal
crystalline/macular disease.
Targeted search did not find a local Sjogren-Larsson syndrome, ALDH3A2, or fatty aldehyde dehydrogenase deficiency entry.
Concordance and completeness
Judgement: true local ALDH3A2 / Sjogren-Larsson syndrome gap; reject Sjogren autoimmune disease as exact.
The generated candidate is a lexical eponym collision. It should not be used for coverage because the biology, gene, inheritance, and phenotype package are unrelated.
Curation actions
- Keep this row unmapped until an ALDH3A2 / Sjogren-Larsson syndrome target exists.
- Do not map to
Sjogrens_Syndrome.yaml. - Preserve decreased fibroblast aldehyde dehydrogenase, ichthyosis, spastic paraparesis/paraplegia/tetraplegia, intellectual disability, leukoencephalopathy, and macular-degeneration prompts.